SLC36A1
Chr 5solute carrier family 36 member 1
Also known as: Dct1, LYAAT1, PAT1, TRAMD3
The protein functions as an electrogenic proton/amino acid symporter with selectivity for small neutral amino acids and GABA, and may be involved in lysosomal amino acid efflux and neuronal exocytosis. Mutations cause autosomal recessive iminoglycinuria with hyperglycinuria, a benign renal transport disorder typically presenting in childhood with elevated glycine and imino acids in urine. The gene shows low constraint to loss-of-function variation, consistent with the mild clinical phenotype.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC36A1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools